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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:microphthalmia
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Accession:DOID:10629 term browser browse the term
Definition:An eye disease where one or both eyeballs are abnormally small. (DO)
Synonyms:exact_synonym: anophthalmia/microphthalmia;   microphthalmos
 narrow_synonym: BILATERAL MICROPHTHALMOS;   COMPLEX MICROPHTHALMIA;   UNILATERAL MICROPHTHALMOS;   simple microphthalmos
 primary_id: MESH:D008850
 xref: EFO:0005569;   GARD:12085;   ICD10CM:Q11.2;   ICD9CM:743.1;   MIM:PS251600;   NCI:C98989
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
microphthalmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930447C04Rik RIKEN cDNA 4930447C04 gene ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmos ClinVar PMID:25741868 PMID:28492532 NCBI chr12:72,926,967...72,964,742
Ensembl chr12:72,927,883...72,987,548 		JBrowse link
G Aldh1a3 aldehyde dehydrogenase family 1, subfamily A3 ISO ClinVar Annotator: match by term: Microphthalmia ClinVar PMID:25741868 NCBI chr 7:66,040,640...66,077,225
Ensembl chr 7:66,040,638...66,077,265 		JBrowse link
G Arhgap35 Rho GTPase activating protein 35 ISO ClinVar Annotator: match by term: Bilateral microphthalmos | ClinVar Annotator: match by term: Unilateral microphthalmos ClinVar PMID:25741868 PMID:36450800 NCBI chr 7:16,228,398...16,349,313
Ensembl chr 7:16,227,644...16,348,918 		JBrowse link
G Arhgap6 Rho GTPase activating protein 6 IAGP OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 MouseDO NCBI chr  X:167,578,091...168,087,436
Ensembl chr  X:167,578,095...168,087,431 		JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:21106365 PMID:24326041 PMID:24755471 PMID:25231023 PMID:25741868 More... NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878 		JBrowse link
G Cryba1 crystallin, beta A1 ISO RGD PMID:15721615 RGD:126925760 NCBI chr11:77,609,440...77,616,119
Ensembl chr11:77,609,441...77,616,109 		JBrowse link
G Dicer1 dicer 1, ribonuclease type III ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211 		JBrowse link
G Dyrk1a dual-specificity tyrosine phosphorylation regulated kinase 1a ISO ClinVar Annotator: match by term: Microphthalmia ClinVar PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25920557 More... NCBI chr16:94,370,770...94,496,378
Ensembl chr16:94,370,869...94,496,376 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:105,527,665...105,734,909
Ensembl chr 2:105,531,372...105,734,909 		JBrowse link
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10739753 NCBI chr14:32,235,248...32,302,947
Ensembl chr14:32,235,478...32,302,947 		JBrowse link
G Fancd2 Fanconi anemia, complementation group D2 IMP RGD PMID:12893777 RGD:11344906 NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: therapeutic CTD PMID:32472575 NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:24700879 PMID:25353622 PMID:26893459 PMID:28492532 PMID:31308072 More... NCBI chr 5:96,518,622...96,932,592
Ensembl chr 5:96,521,814...96,932,587 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:35123994 NCBI chr 9:77,661,817...77,701,771
Ensembl chr 9:77,661,817...77,701,767 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Bilateral microphthalmos ClinVar PMID:25741868 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
G Gja8 gap junction protein, alpha 8 ISO DNA:missense mutation:cds:p.L7Q(rat)
ClinVar Annotator: match by term: Microphthalmia		 ClinVar
RGD		 PMID:25741868 PMID:18470322 RGD:2293186 NCBI chr 3:96,820,882...96,833,367
Ensembl chr 3:96,820,882...96,833,336 		JBrowse link
G Hccs holocytochrome c synthetase ISO
IAGP		 microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C
OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972		 MouseDO
RGD		 PMID:17033964 RGD:1600417 NCBI chr  X:168,094,526...168,103,361
Ensembl chr  X:168,033,189...168,103,368 		JBrowse link
G Hmx1 H6 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19379485 NCBI chr 5:35,546,124...35,557,629
Ensembl chr 5:35,546,452...35,557,074 		JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar NCBI chr 2:105,490,598...105,506,398 JBrowse link
G LOC106660621 Sox2 5' regulatory region ISO ClinVar Annotator: match by term: Microphthalmia ClinVar PMID:25741868 NCBI chr 3:34,698,540...34,704,381 JBrowse link
G Lrp5 low density lipoprotein receptor-related protein 5 ISO DNA:mutation:splice junction: RGD PMID:28111184 RGD:12793059 NCBI chr19:3,634,825...3,736,574
Ensembl chr19:3,634,828...3,736,564 		JBrowse link
G Mfrp membrane frizzled-related protein ISO DNA:nonsense mutations:exons:c.271C>T,c.498dupC(human) RGD PMID:23742260 RGD:11553922 NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,013,026...44,020,484 		JBrowse link
G Mid1 midline 1 IAGP OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 MouseDO NCBI chr  X:168,468,178...168,773,692
Ensembl chr  X:168,468,195...168,773,794 		JBrowse link
G Mip major intrinsic protein of lens fiber ISO ClinVar Annotator: match by term: Microphthalmos ClinVar PMID:25741868 NCBI chr10:128,061,679...128,067,681
Ensembl chr10:128,061,707...128,067,681 		JBrowse link
G Notch1 notch 1 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:22715480 PMID:25741868 PMID:28492532 PMID:33296094 NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276 		JBrowse link
G Pax6 paired box 6 ISO human gene in a mouse model
ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmia		 ClinVar
RGD		 PMID:9727514 PMID:12868034 PMID:15086958 PMID:16407227 PMID:17417613 More... RGD:8552240 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pitx3 paired-like homeodomain transcription factor 3 IAGP
ISO		 DNA:nonsense mutation:cl444C>A(mouse)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16565358 PMID:25347445 RGD:11535071 NCBI chr19:46,123,720...46,136,764
Ensembl chr19:46,124,124...46,136,765 		JBrowse link
G Prr12 proline rich 12 ISO ClinVar Annotator: match by term: complex microphthalmia ClinVar PMID:33314030 NCBI chr 7:44,677,125...44,702,758
Ensembl chr 7:44,676,987...44,702,305 		JBrowse link
G Prss56 serine protease 56 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532570 NCBI chr 1:87,111,002...87,116,127
Ensembl chr 1:87,111,035...87,116,127 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:25567908 PMID:26467025 PMID:26802149 PMID:26893459 PMID:28492532 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Rab3gap2 RAB3 GTPase activating protein subunit 2 ISO ClinVar Annotator: match by term: Microphthalmos ClinVar PMID:25741868 NCBI chr 1:184,936,287...185,018,953
Ensembl chr 1:184,936,314...185,018,956 		JBrowse link
G Ralbp1 ralA binding protein 1 IAGP MouseDO NCBI chr17:66,155,410...66,192,750
Ensembl chr17:66,155,413...66,192,793 		JBrowse link
G Rarb retinoic acid receptor, beta ISO ClinVar Annotator: match by term: Microphthalmia ClinVar PMID:25741868 NCBI chr14:5,387,365...6,038,924
Ensembl chr14:5,650,540...6,038,924 		JBrowse link
G Rbp4 retinol binding protein 4, plasma ISO ClinVar Annotator: match by term: Bilateral microphthalmos | ClinVar Annotator: match by term: Microphthalmia | ClinVar Annotator: match by term: Unilateral microphthalmos ClinVar PMID:25741868 PMID:25910211 PMID:29178648 NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729 		JBrowse link
G Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr14:52,341,698...52,398,796
Ensembl chr14:52,348,161...52,401,003 		JBrowse link
G Shh sonic hedgehog ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:31690747 PMID:32472575 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254 		JBrowse link
G Six6 sine oculis-related homeobox 6 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmos ClinVar PMID:25741868 PMID:28492532 NCBI chr12:72,986,656...72,991,673
Ensembl chr12:72,986,666...72,991,673 		JBrowse link
G Sox2 SRY (sex determining region Y)-box 2 ISO ClinVar Annotator: match by term: Microphthalmia ClinVar PMID:25741868 NCBI chr 3:34,704,144...34,706,610
Ensembl chr 3:34,704,554...34,706,610 		JBrowse link
G Sox2ot SOX2 overlapping transcript (non-protein coding) ISO ClinVar Annotator: match by term: Microphthalmia ClinVar PMID:25741868 NCBI chr 3:34,614,530...34,732,142
Ensembl chr 3:34,158,419...34,789,489 		JBrowse link
G Stau2 staufen double-stranded RNA binding protein 2 ISO RGD PMID:22940085 RGD:10043154 NCBI chr 1:16,299,027...16,591,228
Ensembl chr 1:16,298,898...16,590,336 		JBrowse link
G Stra6 stimulated by retinoic acid gene 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microphthalmia		 CTD
ClinVar		 PMID:18316031 PMID:25741868 NCBI chr 9:57,971,076...58,061,287
Ensembl chr 9:57,971,071...58,061,279 		JBrowse link
G Tfap2a transcription factor AP-2, alpha ISO ClinVar Annotator: match by term: Microphthalmos ClinVar PMID:25741868 NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852 		JBrowse link
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 IAGP MouseDO NCBI chr19:22,114,789...22,972,774
Ensembl chr19:22,116,410...22,972,774 		JBrowse link
G Vax1 ventral anterior homeobox 1 ISO ClinVar Annotator: match by term: Microphthalmia ClinVar PMID:25741868 NCBI chr19:59,152,912...59,158,829
Ensembl chr19:59,154,619...59,158,488 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia | ClinVar Annotator: match by term: Microphthalmos ClinVar PMID:15257456 PMID:20414678 PMID:21976963 PMID:23028343 PMID:24033328 More... NCBI chr12:84,616,602...84,642,231
Ensembl chr12:84,616,536...84,642,231 		JBrowse link
Arhinia, Choanal Atresia, and Microphthalmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smchd1 SMC hinge domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia		 CTD
ClinVar
OMIM		 PMID:672092 PMID:5032329 PMID:6802865 PMID:8446727 PMID:8723126 More... NCBI chr17:71,651,484...71,782,361
Ensembl chr17:71,651,484...71,782,338 		JBrowse link
cataract 40 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Cataract 40 | ClinVar Annotator: match by term: Cataract 40, X-linked
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14564667 PMID:16736028 PMID:18949062 PMID:19414485 PMID:23757202 More... NCBI chr  X:160,616,286...160,942,437
Ensembl chr  X:160,616,292...160,942,726 		JBrowse link
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type OMIM
ClinVar		 PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 NCBI chr  X:7,796,355...7,814,284
Ensembl chr  X:7,796,359...7,814,128 		JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanogenesis associated transcription factor ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM		 PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27884168 More... NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
frontonasal dysplasia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 ISO
IAGP		 ClinVar Annotator: match by term: Frontonasal dysplasia 3
OMIM:613456		 OMIM
ClinVar
MouseDO		 PMID:20451171 PMID:24467814 PMID:25741868 PMID:27324866 PMID:28492532 NCBI chr10:102,834,564...102,865,501
Ensembl chr10:102,834,568...102,866,076 		JBrowse link
GARG-MISHRA PROGEROID SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tomm7 translocase of outer mitochondrial membrane 7 ISO ClinVar Annotator: match by term: Garg-Mishra progeroid syndrome ClinVar
OMIM		 PMID:36282599 PMID:36299998 NCBI chr 5:24,043,942...24,049,143
Ensembl chr 5:24,043,942...24,049,159 		JBrowse link
HEART AND BRAIN MALFORMATION SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smg9 SMG9 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Heart and brain malformation syndrome OMIM
ClinVar		 PMID:25741868 PMID:27018474 PMID:28492532 PMID:31390136 PMID:32412169 More... NCBI chr 7:24,099,106...24,122,197
Ensembl chr 7:24,099,044...24,122,203 		JBrowse link
Hittner Hirsch Kreh Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:9536098 PMID:15300250 PMID:16155193 PMID:16400610 PMID:16615981 More... NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:29300383 NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278 		JBrowse link
G Puf60 poly-U binding splicing factor 60 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:25741868 PMID:29300383 NCBI chr15:75,942,031...75,954,386
Ensembl chr15:75,942,031...75,952,773 		JBrowse link
G Sema3e sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:9536098 PMID:15235037 PMID:17576681 PMID:25741868 PMID:25985275 More... NCBI chr 5:14,075,290...14,306,703
Ensembl chr 5:14,075,290...14,306,703 		JBrowse link
Holoprosencephaly 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI-Kruppel family member GLI2 ISO ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349 		JBrowse link
isolated microphthalmia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vrk1 vaccinia related kinase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:105,976,398...106,044,578
Ensembl chr12:105,976,487...106,043,685
Ensembl chr12:105,976,487...106,043,685 		JBrowse link
G Vsx2 visual system homeobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Isolated microphthalmia 2 | ClinVar Annotator: match by term: VSX2-related condition		 OMIM
CTD
ClinVar		 PMID:3378363 PMID:10932181 PMID:15257456 PMID:16199547 PMID:17661825 More... NCBI chr12:84,616,602...84,642,231
Ensembl chr12:84,616,536...84,642,231 		JBrowse link
isolated microphthalmia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk2 alpha-kinase 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:65,398,600...65,526,959
Ensembl chr18:65,398,600...65,527,137 		JBrowse link
G Atp8b1 ATPase, class I, type 8B, member 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:64,662,050...64,794,342
Ensembl chr18:64,662,038...64,794,338 		JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:66,189,926...66,424,909
Ensembl chr18:66,178,373...66,435,812 		JBrowse link
G Cplx4 complexin 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:66,088,793...66,103,249
Ensembl chr18:66,088,793...66,103,308 		JBrowse link
G Fech ferrochelatase ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:64,589,613...64,622,169
Ensembl chr18:64,585,985...64,623,322 		JBrowse link
G Grp gastrin releasing peptide ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:66,005,826...66,019,670
Ensembl chr18:66,005,891...66,019,667 		JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:66,113,810...66,135,706
Ensembl chr18:66,113,809...66,155,651 		JBrowse link
G Malt1 MALT1 paracaspase ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:65,564,010...65,612,138
Ensembl chr18:65,564,009...65,612,138 		JBrowse link
G Mc4r melanocortin 4 receptor ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:66,990,776...66,993,558
Ensembl chr18:66,990,775...66,993,577 		JBrowse link
G Mir122 microRNA 122 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:65,381,932...65,381,997
Ensembl chr18:65,381,932...65,381,997 		JBrowse link
G Nars1 asparaginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:64,632,726...64,649,586
Ensembl chr18:64,632,718...64,649,723 		JBrowse link
G Nedd4l neural precursor cell expressed, developmentally down-regulated gene 4-like ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:65,017,551...65,350,888
Ensembl chr18:65,020,776...65,350,899 		JBrowse link
G Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:66,591,675...66,598,629
Ensembl chr18:66,591,604...66,598,636 		JBrowse link
G Rax retina and anterior neural fold homeobox ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Isolated microphthalmia 3		 OMIM
CTD
ClinVar		 PMID:14662654 PMID:18783408 PMID:19158959 PMID:19935664 PMID:20494911 More... NCBI chr18:66,067,710...66,072,160
Ensembl chr18:66,061,348...66,072,858 		JBrowse link
G Sec11c SEC11 homolog C, signal peptidase complex subunit ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:65,933,649...65,950,731
Ensembl chr18:65,933,586...65,950,755 		JBrowse link
G Zfp532 zinc finger protein 532 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:65,713,301...65,822,514
Ensembl chr18:65,712,983...65,822,514 		JBrowse link
isolated microphthalmia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf6 growth differentiation factor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Isolated microphthalmia 4		 OMIM
CTD
ClinVar		 PMID:18425797 PMID:19129173 PMID:23307924 PMID:24033266 PMID:25741868 More... NCBI chr 4:9,844,372...9,862,345
Ensembl chr 4:9,844,372...9,862,345 		JBrowse link
isolated microphthalmia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,184,485...44,199,953
Ensembl chr 9:44,184,485...44,199,912 		JBrowse link
G Apoa1 apolipoprotein A-I ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764 		JBrowse link
G Apoa4 apolipoprotein A-IV ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757 		JBrowse link
G Apoc3 apolipoprotein C-III ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934 		JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,653,440...44,679,105
Ensembl chr 9:44,652,861...44,679,142 		JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:42,875,138...43,017,069
Ensembl chr 9:42,875,138...43,018,534 		JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,824,546...44,832,470
Ensembl chr 9:44,823,855...44,832,040 		JBrowse link
G Bace1 beta-site APP cleaving enzyme 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,749,878...45,775,694
Ensembl chr 9:45,749,878...45,775,697 		JBrowse link
G Bcl9l B cell CLL/lymphoma 9-like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,394,103...44,423,203
Ensembl chr 9:44,394,122...44,423,193 		JBrowse link
G C1qtnf5 C1q and tumor necrosis factor related protein 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen ClinVar PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 More... NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,018,542...44,020,484 		JBrowse link
G C2cd2l C2 calcium-dependent domain containing 2-like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,220,534...44,231,579
Ensembl chr 9:44,220,534...44,231,582 		JBrowse link
G Cbl Casitas B-lineage lymphoma ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346 		JBrowse link
G Ccdc153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,151,961...44,158,240
Ensembl chr 9:44,151,973...44,158,603 		JBrowse link
G Cd3d CD3 antigen, delta polypeptide ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,893,067...44,898,350
Ensembl chr 9:44,893,084...44,898,637 		JBrowse link
G Cd3e CD3 antigen, epsilon polypeptide ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,910,033...44,920,961
Ensembl chr 9:44,910,038...44,920,925 		JBrowse link
G Cd3g CD3 antigen, gamma polypeptide ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,880,870...44,891,729
Ensembl chr 9:44,880,870...44,891,729 		JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,321,456...44,329,390
Ensembl chr 9:44,321,456...44,329,866 		JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,678,244...45,739,984
Ensembl chr 9:45,678,244...45,739,989 		JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,423,084...44,437,741
Ensembl chr 9:44,423,084...44,473,174 		JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,514,113...44,552,028
Ensembl chr 9:44,516,189...44,552,028 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,237,314...44,247,374
Ensembl chr 9:44,237,316...44,245,197 		JBrowse link
G Dscaml1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,338,735...45,665,011
Ensembl chr 9:45,337,926...45,665,010 		JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,345,531...44,352,165
Ensembl chr 9:44,345,070...44,352,433 		JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,311,007...45,321,576
Ensembl chr 9:45,310,967...45,321,576 		JBrowse link
G Fxyd6 FXYD domain-containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,280,768...45,307,457
Ensembl chr 9:45,281,483...45,307,457 		JBrowse link
G Grik4 glutamate receptor, ionotropic, kainate 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:42,431,708...42,856,296
Ensembl chr 9:42,429,431...42,855,789 		JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,246,012...44,247,374
Ensembl chr 9:44,245,991...44,247,374 		JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,201,509...44,217,003
Ensembl chr 9:44,203,737...44,216,968 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,290,840...44,303,662
Ensembl chr 9:44,290,787...44,303,666 		JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,683,074...44,704,011
Ensembl chr 9:44,679,205...44,704,744 		JBrowse link
G Il10ra interleukin 10 receptor, alpha ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,165,135...45,180,447
Ensembl chr 9:45,165,135...45,180,447 		JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,990,451...45,019,829
Ensembl chr 9:44,990,481...45,019,832 		JBrowse link
G Kmt2a lysine (K)-specific methyltransferase 2A ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,714,652...44,793,492
Ensembl chr 9:44,714,652...44,792,594 		JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,045,958...44,054,024
Ensembl chr 9:44,045,766...44,054,024 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human)		 OMIM
ClinVar
RGD		 PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 More... RGD:11553925 NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,013,026...44,020,484 		JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,951,595...44,965,341
Ensembl chr 9:44,951,097...44,965,313 		JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,966,479...44,988,735
Ensembl chr 9:44,966,484...44,988,734 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:43,655,251...43,718,758
Ensembl chr 9:43,655,281...43,743,955 		JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,158,609...44,162,761
Ensembl chr 9:44,158,604...44,162,768 		JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,164,010...44,179,896
Ensembl chr 9:44,164,014...44,179,896 		JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:43,132,575...43,151,113
Ensembl chr 9:43,132,532...43,151,208 		JBrowse link
G Pafah1b2 platelet-activating factor acetylhydrolase, isoform 1b, subunit 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,876,609...45,923,988
Ensembl chr 9:45,874,157...45,923,988 		JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,817,745...45,843,405
Ensembl chr 9:45,817,795...45,841,024 		JBrowse link
G Phldb1 pleckstrin homology like domain, family B, member 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,597,605...44,649,800
Ensembl chr 9:44,597,601...44,646,495 		JBrowse link
G Pou2f3 POU domain, class 2, transcription factor 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:43,035,222...43,117,052
Ensembl chr 9:43,035,234...43,121,666 		JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,768,067...45,818,209
Ensembl chr 9:45,774,723...45,818,209 		JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,022,078...44,024,348
Ensembl chr 9:44,006,928...44,024,814
Ensembl chr 9:44,006,928...44,024,814 		JBrowse link
G Rps25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,319,011...44,321,703
Ensembl chr 9:44,318,436...44,321,724 		JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:42,162,888...42,175,607
Ensembl chr 9:42,162,891...42,175,552 		JBrowse link
G Scn2b sodium channel, voltage-gated, type II, beta ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,029,174...45,041,368
Ensembl chr 9:45,029,080...45,041,368 		JBrowse link
G Scn4b sodium channel, type IV, beta ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,049,922...45,065,453
Ensembl chr 9:45,049,693...45,065,450 		JBrowse link
G Sidt2 SID1 transmembrane family, member 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,849,155...45,869,299
Ensembl chr 9:45,849,155...45,866,556 		JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,924,099...46,135,492
Ensembl chr 9:45,924,118...46,135,492 		JBrowse link
G Slc37a4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,308,243...44,314,263
Ensembl chr 9:44,308,149...44,314,265 		JBrowse link
G Sorl1 sortilin-related receptor, LDLR class A repeats-containing ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:41,876,005...42,035,593
Ensembl chr 9:41,876,016...42,035,593 		JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,840,926...45,847,356
Ensembl chr 9:45,840,917...45,847,356 		JBrowse link
G Tbcel tubulin folding cofactor E-like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:42,323,612...42,383,534
Ensembl chr 9:42,323,612...42,419,105 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:42,240,918...42,312,986
Ensembl chr 9:42,240,915...42,311,225 		JBrowse link
G Thy1 thymus cell antigen 1, theta ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:43,954,681...43,959,876
Ensembl chr 9:43,954,681...43,959,876 		JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:43,019,945...43,028,000
Ensembl chr 9:43,019,945...43,027,865 		JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,705,069...44,710,821
Ensembl chr 9:44,705,066...44,710,604 		JBrowse link
G Tmprss13 transmembrane protease, serine 13 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,230,286...45,258,879
Ensembl chr 9:45,230,398...45,258,879 		JBrowse link
G Tmprss4 transmembrane protease, serine 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,084,024...45,115,417
Ensembl chr 9:45,084,024...45,115,390 		JBrowse link
G Trappc4 trafficking protein particle complex 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,315,057...44,318,629
Ensembl chr 9:44,314,995...44,318,897 		JBrowse link
G Treh trehalase (brush-border membrane glycoprotein) ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,584,530...44,597,602
Ensembl chr 9:44,584,530...44,597,602 		JBrowse link
G Trim29 tripartite motif-containing 29 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:43,222,012...43,247,422
Ensembl chr 9:43,222,145...43,247,412 		JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,710,697...44,714,248
Ensembl chr 9:44,710,694...44,714,369 		JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,834,425...44,877,021
Ensembl chr 9:44,834,425...44,876,898 		JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,364,012...44,366,064
Ensembl chr 9:44,364,012...44,366,273 		JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:43,978,318...44,006,924
Ensembl chr 9:43,978,318...44,006,924 		JBrowse link
G Vps11 VPS11, CORVET/HOPS core subunit ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,259,046...44,272,970
Ensembl chr 9:44,259,046...44,272,967 		JBrowse link
isolated microphthalmia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and tumor necrosis factor related protein 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 6 | ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC ClinVar PMID:19169412 PMID:25741868 PMID:28492532 NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,018,542...44,020,484 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Isolated microphthalmia 6 | ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC ClinVar PMID:19169412 PMID:25741868 PMID:28492532 NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,013,026...44,020,484 		JBrowse link
G Prss56 serine protease 56 ISO
IAGP		 ClinVar Annotator: match by term: Isolated microphthalmia 6 | ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC
OMIM:613517		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:15823920 PMID:17576681 PMID:19526372 PMID:21397065 More... NCBI chr 1:87,111,002...87,116,127
Ensembl chr 1:87,111,035...87,116,127 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC ClinVar PMID:25741868 NCBI chr12:84,616,602...84,642,231
Ensembl chr12:84,616,536...84,642,231 		JBrowse link
isolated microphthalmia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 7 OMIM
ClinVar		 PMID:19864492 PMID:25741868 PMID:28492532 NCBI chr 6:122,582,362...122,587,046
Ensembl chr 6:122,582,362...122,587,046 		JBrowse link
isolated microphthalmia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a3 aldehyde dehydrogenase family 1, subfamily A3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 8 OMIM
ClinVar		 PMID:23312594 PMID:23591992 PMID:23646827 PMID:24777706 PMID:25741868 More... NCBI chr 7:66,040,640...66,077,225
Ensembl chr 7:66,040,638...66,077,265 		JBrowse link
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 sine oculis-related homeobox 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:72,986,656...72,991,673
Ensembl chr12:72,986,666...72,991,673 		JBrowse link
Isolated Microphthalmia with Cataract 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba4 crystallin, beta A4 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with cataract 4 ClinVar PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr 5:112,394,358...112,411,411
Ensembl chr 5:112,394,359...112,400,384 		JBrowse link
Isolated Microphthalmia with Coloboma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stra6 stimulated by retinoic acid gene 6 ISO DNA:missense mutation:CDS:p.G204K (human) RGD PMID:21901792 RGD:155631284 NCBI chr 9:57,971,076...58,061,287
Ensembl chr 9:57,971,071...58,061,279 		JBrowse link
Isolated Microphthalmia with Coloboma 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vsx2 visual system homeobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 3		 OMIM
CTD
ClinVar		 PMID:10932181 PMID:15257456 PMID:16199547 PMID:17661825 PMID:20414678 More... NCBI chr12:84,616,602...84,642,231
Ensembl chr12:84,616,536...84,642,231 		JBrowse link
Isolated Microphthalmia with Coloboma 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shh sonic hedgehog ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9302262 PMID:10556296 PMID:12503095 PMID:12709790 PMID:15292211 More... NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254 		JBrowse link
Isolated Microphthalmia with Coloboma 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 OMIM
ClinVar		 PMID:19864492 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr 6:122,582,362...122,587,046
Ensembl chr 6:122,582,362...122,587,046 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 OMIM
ClinVar		 PMID:18425797 PMID:19129173 PMID:19864492 PMID:23307924 PMID:24033266 More... NCBI chr 4:9,844,372...9,862,345
Ensembl chr 4:9,844,372...9,862,345 		JBrowse link
linear skin defects with multiple congenital anomalies 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox7b cytochrome c oxidase subunit 7B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:105,059,306...105,066,056
Ensembl chr  X:105,059,306...105,066,056 		JBrowse link
G Hccs holocytochrome c synthetase ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16059943 PMID:17033964 PMID:17893649 PMID:25741868 PMID:33461977 NCBI chr  X:168,094,526...168,103,361
Ensembl chr  X:168,033,189...168,103,368 		JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:25741868 PMID:25772934 NCBI chr  X:20,481,565...20,483,858
Ensembl chr  X:20,481,565...20,483,858 		JBrowse link
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif 18 ISO ClinVar Annotator: match by term: ADAMTS18-related condition | ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus OMIM
ClinVar		 PMID:22686506 PMID:23818446 PMID:24874986 PMID:25741868 PMID:28492532 More... NCBI chr 8:114,423,755...114,575,975
Ensembl chr 8:114,423,758...114,575,370 		JBrowse link
Microphthalmia, Cataracts, and Iris Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 IMP RGD PMID:20735985 RGD:12880033 NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, cataracts, and iris abnormalities ClinVar PMID:10932181 PMID:17661825 PMID:23028343 PMID:25741868 PMID:27013732 More... NCBI chr12:84,616,602...84,642,231
Ensembl chr12:84,616,536...84,642,231 		JBrowse link
Microphthalmia/Coloboma 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp4 retinol binding protein 4, plasma ISO ClinVar Annotator: match by term: MICROPHTHALMIA/COLOBOMA 10 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 10 OMIM
ClinVar		 PMID:25741868 PMID:25910211 NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729 		JBrowse link
Microphthalmia/Coloboma 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd5 frizzled class receptor 5 ISO ClinVar Annotator: match by term: Microphthalmia/coloboma 11 OMIM
ClinVar		 PMID:25741868 PMID:26908622 PMID:32737437 PMID:33633439 NCBI chr 1:64,769,717...64,776,907
Ensembl chr 1:64,769,717...64,776,910 		JBrowse link
Microphthalmia/Coloboma 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 ISO OMIM NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
Microphthalmia/Coloboma 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhej1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: MICROPHTHALMIA/COLOBOMA 13 OMIM
ClinVar		 PMID:25741868 PMID:37580330 NCBI chr 1:75,006,505...75,101,870
Ensembl chr 1:75,006,298...75,101,844 		JBrowse link
Microphthalmia/Coloboma 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP-binding cassette, sub-family B member 6 ISO ClinVar Annotator: match by term: MICROPHTHALMIA/COLOBOMA 7 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 7 OMIM
ClinVar		 PMID:2998465 PMID:15142123 PMID:19504436 PMID:22226084 PMID:23180570 More... NCBI chr 1:75,148,284...75,157,066
Ensembl chr 1:75,148,361...75,157,036 		JBrowse link
Microphthalmia/Coloboma 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tenm3 teneurin transmembrane protein 3 ISO ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 15 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 9 OMIM
ClinVar		 PMID:22766609 PMID:25741868 PMID:27103084 PMID:28492532 PMID:29753094 More... NCBI chr 8:48,678,700...51,370,255
Ensembl chr 8:48,680,717...49,296,986 		JBrowse link
nanophthalmos term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and tumor necrosis factor related protein 5 ISO ClinVar Annotator: match by term: Nanophthalmia ClinVar PMID:25412400 PMID:25741868 PMID:26583794 PMID:28492532 PMID:29170418 More... NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,018,542...44,020,484 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Nanophthalmia ClinVar PMID:25412400 PMID:25741868 PMID:26583794 PMID:28492532 PMID:29170418 More... NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,013,026...44,020,484 		JBrowse link
G Myrf myelin regulatory factor ISO DNA:mutations:cds: RGD PMID:31048900 RGD:197810045 NCBI chr19:10,185,635...10,218,134
Ensembl chr19:10,185,636...10,218,112 		JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Nanophthalmos ClinVar PMID:19526372 PMID:21397065 PMID:21532570 PMID:21670352 PMID:22908982 More... NCBI chr 1:87,111,002...87,116,127
Ensembl chr 1:87,111,035...87,116,127 		JBrowse link
Nanophthalmos 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Nanophthalmos 1 ClinVar NCBI chr19:10,185,635...10,218,134
Ensembl chr19:10,185,636...10,218,112 		JBrowse link
Nanophthalmos 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and tumor necrosis factor related protein 5 ISO ClinVar Annotator: match by term: Nanophthalmos 2 ClinVar PMID:1258954 PMID:12140190 PMID:15976030 PMID:17167404 PMID:18554571 More... NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,018,542...44,020,484 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Nanophthalmos 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1258954 PMID:12140190 PMID:15976030 PMID:17167404 PMID:18554571 More... NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,013,026...44,020,484 		JBrowse link
Nanophthalmos 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem98 transmembrane protein 98 ISO ClinVar Annotator: match by term: Nanophthalmos 4 OMIM
ClinVar		 PMID:24852644 PMID:26392740 NCBI chr11:80,701,192...80,712,859
Ensembl chr11:80,701,001...80,712,859 		JBrowse link
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 More... NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar PMID:28492532 NCBI chr10:55,890,389...56,106,495
Ensembl chr10:55,890,389...56,104,785 		JBrowse link
optic disc anomalies with retinal and/or macular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930447C04Rik RIKEN cDNA 4930447C04 gene ISO ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY ClinVar PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 More... NCBI chr12:72,926,967...72,964,742
Ensembl chr12:72,927,883...72,987,548 		JBrowse link
G Six6 sine oculis-related homeobox 6 ISO ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY OMIM
ClinVar		 PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 More... NCBI chr12:72,986,656...72,991,673
Ensembl chr12:72,986,666...72,991,673 		JBrowse link
syndromic microphthalmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G LOC109433675 Bmp4 promoter region ISO ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant ClinVar NCBI chr14:46,623,541...46,630,440 JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276 		JBrowse link
syndromic microphthalmia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcor BCL6 interacting corepressor ISO DNA:missense mutation:exon:254C>T (p.P85L) (human)
ClinVar Annotator: match by term: Microphthalmia, syndromic 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:24728327 PMID:25741868 PMID:28492532 PMID:15004558 RGD:1600504 NCBI chr  X:11,902,976...12,026,769
Ensembl chr  X:11,902,979...12,026,594 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microphthalmia, syndromic 1		 OMIM
CTD
ClinVar		 PMID:1679229 PMID:11426460 PMID:16114045 PMID:24033266 PMID:24431331 More... NCBI chr  X:72,960,476...72,965,550
Ensembl chr  X:72,960,479...72,965,550 		JBrowse link
syndromic microphthalmia 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc172 coiled-coil domain containing 172 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:58,500,416...58,546,504
Ensembl chr19:58,500,424...58,541,517 		JBrowse link
G Emx2 empty spiracles homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:59,447,122...59,453,789
Ensembl chr19:59,446,804...59,453,789 		JBrowse link
G Emx2os Emx2 opposite strand/antisense transcript, non-protein coding ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:59,413,536...59,447,067
Ensembl chr19:59,383,296...59,448,147 		JBrowse link
G Eno4 enolase 4 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:58,922,490...58,959,853
Ensembl chr19:58,931,857...58,959,853 		JBrowse link
G Gfra1 glial cell line derived neurotrophic factor family receptor alpha 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:58,224,013...58,444,387
Ensembl chr19:58,224,036...58,444,341 		JBrowse link
G Hspa12a heat shock protein 12A ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:58,784,182...58,932,104
Ensembl chr19:58,784,182...58,932,086 		JBrowse link
G Kcnk18 potassium channel, subfamily K, member 18 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:59,208,080...59,225,802
Ensembl chr19:59,207,646...59,225,806 		JBrowse link
G Or52n20 olfactory receptor family 52 subfamily N member 20 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 7:104,319,911...104,320,879
Ensembl chr 7:104,315,960...104,324,155 		JBrowse link
G Pdzd8 PDZ domain containing 8 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:59,284,516...59,334,212
Ensembl chr19:59,285,610...59,334,212 		JBrowse link
G Pnlip pancreatic lipase ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:58,658,797...58,670,231
Ensembl chr19:58,640,930...58,670,220 		JBrowse link
G Pnliprp1 pancreatic lipase related protein 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:58,717,319...58,732,601
Ensembl chr19:58,717,319...58,732,601 		JBrowse link
G Pnliprp2 pancreatic lipase-related protein 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:58,748,155...58,765,966
Ensembl chr19:58,748,151...58,765,966 		JBrowse link
G Shtn1 shootin 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:58,961,790...59,064,536
Ensembl chr19:58,961,788...59,064,532 		JBrowse link
G Slc18a2 solute carrier family 18 (vesicular monoamine), member 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:59,249,310...59,284,444
Ensembl chr19:59,249,328...59,284,444 		JBrowse link
G Spmip5 sperm associated microtubule inner protein 5 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:58,774,233...58,782,846
Ensembl chr19:58,774,235...58,782,893 		JBrowse link
G Vax1 ventral anterior homeobox 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 OMIM
ClinVar		 PMID:22095910 PMID:25741868 PMID:28492532 NCBI chr19:59,152,912...59,158,829
Ensembl chr19:59,154,619...59,158,488 		JBrowse link
syndromic microphthalmia 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ngly1 N-glycanase 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 12 ClinVar PMID:24651605 PMID:28492532 NCBI chr14:6,157,837...6,220,449
Ensembl chr14:6,157,837...6,220,483 		JBrowse link
G Rarb retinoic acid receptor, beta ISO ClinVar Annotator: match by term: MICROPHTHALMIA WITH OR WITHOUT PULMONARY HYPOPLASIA, DIAPHRAGMATIC HERNIA, AND/OR CARDIAC DEFECTS | ClinVar Annotator: match by term: Microphthalmia, syndromic 12 OMIM
ClinVar		 PMID:14973393 PMID:16199547 PMID:17506106 PMID:24075189 PMID:24651605 More... NCBI chr14:5,387,365...6,038,924
Ensembl chr14:5,650,540...6,038,924 		JBrowse link
G Top2b topoisomerase (DNA) II beta ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 12 ClinVar PMID:24651605 PMID:28492532 NCBI chr14:6,038,976...6,104,585
Ensembl chr14:6,034,301...6,104,584 		JBrowse link
syndromic microphthalmia 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgb3 high mobility group box 3 ISO OMIM NCBI chr  X:70,599,523...70,604,261
Ensembl chr  X:70,599,524...70,604,282 		JBrowse link
syndromic microphthalmia 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrba LPS-responsive beige-like anchor ISO ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome ClinVar PMID:24906020 PMID:25719200 PMID:25741868 PMID:32860008 PMID:34008892 NCBI chr 3:86,130,763...86,690,001
Ensembl chr 3:86,131,987...86,689,999 		JBrowse link
G Mab21l2 mab-21-like 2 ISO ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome OMIM
ClinVar		 PMID:24906020 PMID:25719200 PMID:25741868 PMID:32860008 PMID:34008892 NCBI chr 3:86,453,357...86,455,590
Ensembl chr 3:86,452,888...86,455,590 		JBrowse link
syndromic microphthalmia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap2 ATPase, H+ transporting, lysosomal accessory protein 2 ISO ClinVar Annotator: match by term: Oculofaciocardiodental syndrome ClinVar PMID:28492532 NCBI chr  X:12,453,998...12,483,290
Ensembl chr  X:12,454,040...12,483,288 		JBrowse link
G Bcor BCL6 interacting corepressor ISO
IAGP		 ClinVar Annotator: match by term: BCOR-related condition | ClinVar Annotator: match by term: BCOR-related disorder | ClinVar Annotator: match by term: Oculofaciocardiodental syndrome
DNA:mutations:cds:
OMIM:300166
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:15004558 PMID:15770227 PMID:16199547 PMID:16829040 PMID:17517692 More... RGD:1600504 NCBI chr  X:11,902,976...12,026,769
Ensembl chr  X:11,902,979...12,026,594 		JBrowse link
syndromic microphthalmia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930447C04Rik RIKEN cDNA 4930447C04 gene ISO ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:72,926,967...72,964,742
Ensembl chr12:72,927,883...72,987,548 		JBrowse link
G Actl6a actin-like 6A ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:32,762,695...32,781,122
Ensembl chr 3:32,760,447...32,781,122 		JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:33,864,906...33,898,473
Ensembl chr 3:33,866,511...33,898,459 		JBrowse link
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 PMID:17522144 PMID:19921648 PMID:22382802 PMID:23701296 More... NCBI chr 3:34,111,429...34,135,503
Ensembl chr 3:34,110,169...34,135,470 		JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:34,074,133...34,124,129
Ensembl chr 3:34,074,092...34,124,471 		JBrowse link
G LOC106660621 Sox2 5' regulatory region ISO ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 More... NCBI chr 3:34,698,540...34,704,381 JBrowse link
G Mrpl47 mitochondrial ribosomal protein L47 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:32,781,646...32,790,904
Ensembl chr 3:32,779,546...32,791,754 		JBrowse link
G Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:32,791,206...32,805,708
Ensembl chr 3:32,791,139...32,805,715 		JBrowse link
G Pex5l peroxisomal biogenesis factor 5-like ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:33,002,075...33,197,470
Ensembl chr 3:33,003,557...33,197,396 		JBrowse link
G Six6 sine oculis-related homeobox 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr12:72,986,656...72,991,673
Ensembl chr12:72,986,666...72,991,673 		JBrowse link
G Sox2 SRY (sex determining region Y)-box 2 ISO ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 More... NCBI chr 3:34,704,144...34,706,610
Ensembl chr 3:34,704,554...34,706,610 		JBrowse link
G Sox2-srr2 Sox2 SRR2 enhancer ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 PMID:17522144 PMID:23701296 PMID:24804704 PMID:28492532 NCBI chr 3:34,707,381...34,709,868 JBrowse link
G Sox2ot SOX2 overlapping transcript (non-protein coding) ISO ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 More... NCBI chr 3:34,614,530...34,732,142
Ensembl chr 3:34,158,419...34,789,489 		JBrowse link
G Ttc14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:33,853,923...33,869,009
Ensembl chr 3:33,853,981...33,869,009 		JBrowse link
G Usp13 ubiquitin specific peptidase 13 (isopeptidase T-3) ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:32,870,432...32,992,224
Ensembl chr 3:32,871,695...32,992,220 		JBrowse link
syndromic microphthalmia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930447C04Rik RIKEN cDNA 4930447C04 gene ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:24875647 PMID:25741868 PMID:28492532 NCBI chr12:72,926,967...72,964,742
Ensembl chr12:72,927,883...72,987,548 		JBrowse link
G Adam17 a disintegrin and metallopeptidase domain 17 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr12:21,373,510...21,423,633
Ensembl chr12:21,373,510...21,423,633 		JBrowse link
G Arr3 arrestin 3, retinal ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr  X:99,649,086...99,662,099
Ensembl chr  X:99,649,103...99,662,099 		JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:21106365 PMID:24326041 PMID:24755471 PMID:25231023 PMID:25741868 More... NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878 		JBrowse link
G Cep83 centrosomal protein 83 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 NCBI chr10:94,524,476...94,626,201
Ensembl chr10:94,524,516...94,626,715 		JBrowse link
G Chrd chordin ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 NCBI chr16:20,551,528...20,561,132
Ensembl chr16:20,551,877...20,561,134 		JBrowse link
G Cyp26c1 cytochrome P450, family 26, subfamily c, polypeptide 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr19:37,673,560...37,681,774
Ensembl chr19:37,674,029...37,681,846 		JBrowse link
G Dicer1 dicer 1, ribonuclease type III ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211 		JBrowse link
G Efhd1 EF hand domain containing 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 1:87,192,075...87,238,563
Ensembl chr 1:87,192,085...87,238,561 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:105,527,665...105,734,909
Ensembl chr 2:105,531,372...105,734,909 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr 3:38,939,867...39,066,134
Ensembl chr 3:38,941,089...39,066,134 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26467025 PMID:26893459 PMID:28492532 PMID:36110220 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:24700879 PMID:25353622 PMID:26893459 PMID:28492532 PMID:31308072 More... NCBI chr 5:96,518,622...96,932,592
Ensembl chr 5:96,521,814...96,932,587 		JBrowse link
G Gli2 GLI-Kruppel family member GLI2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460 		JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 5:31,409,050...31,410,541
Ensembl chr 5:31,409,035...31,410,546 		JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar NCBI chr 2:105,490,598...105,506,398 JBrowse link
G Map3k1 mitogen-activated protein kinase kinase kinase 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr13:111,882,962...111,954,803
Ensembl chr13:111,882,962...111,945,527 		JBrowse link
G Mitf melanogenesis associated transcription factor ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Myo1c myosin IC ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr11:75,541,345...75,565,450
Ensembl chr11:75,541,330...75,564,736 		JBrowse link
G Ndst2 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 NCBI chr14:20,773,798...20,784,638
Ensembl chr14:20,773,798...20,784,630 		JBrowse link
G Notch1 notch 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
G Notch4 notch 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr17:34,783,257...34,807,517
Ensembl chr17:34,783,242...34,807,477 		JBrowse link
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 1:136,770,300...136,888,186
Ensembl chr 1:136,770,309...136,888,186 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome | ClinVar Annotator: match by term: OTX2-Related Syndromic Microphthalmia | ClinVar Annotator: match by term: Syndromic microphthalmia type 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15846561 PMID:16607563 PMID:17541950 PMID:18628516 PMID:18781617 More... NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:9727514 PMID:12868034 PMID:15086958 PMID:16407227 PMID:17417613 More... NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pfkp phosphofructokinase, platelet ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr13:6,629,910...6,699,096
Ensembl chr13:6,629,804...6,698,813 		JBrowse link
G Plxnc1 plexin C1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 NCBI chr10:94,626,728...94,780,875
Ensembl chr10:94,626,728...94,780,697 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:16231297 PMID:23334667 PMID:24728327 PMID:25567908 PMID:25741868 More... NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Rax retina and anterior neural fold homeobox ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:27352967 NCBI chr18:66,067,710...66,072,160
Ensembl chr18:66,061,348...66,072,858 		JBrowse link
G Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr14:52,341,698...52,398,796
Ensembl chr14:52,348,161...52,401,003 		JBrowse link
G Sall3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr18:81,010,204...81,030,236
Ensembl chr18:81,009,591...81,029,986 		JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 7:126,549,665...126,569,782
Ensembl chr 7:126,549,735...126,569,778 		JBrowse link
G Sfrp2 secreted frizzled-related protein 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 3:83,673,628...83,681,621
Ensembl chr 3:83,673,628...83,681,623 		JBrowse link
G Six6 sine oculis-related homeobox 6 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:24875647 PMID:25741868 PMID:28492532 NCBI chr12:72,986,656...72,991,673
Ensembl chr12:72,986,666...72,991,673 		JBrowse link
G Sox14 SRY (sex determining region Y)-box 14 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 9:99,756,159...99,758,223
Ensembl chr 9:99,756,159...99,758,223 		JBrowse link
G Stra6 stimulated by retinoic acid gene 6 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 9:57,971,076...58,061,287
Ensembl chr 9:57,971,071...58,061,279 		JBrowse link
G Sulf1 sulfatase 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr 1:12,762,421...12,946,090
Ensembl chr 1:12,762,501...12,931,416 		JBrowse link
G Tamalin trafficking regulator and scaffold protein tamalin ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 NCBI chr15:101,122,088...101,130,637
Ensembl chr15:101,122,069...101,130,637 		JBrowse link
G Tshz2 teashirt zinc finger family member 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 2:169,474,430...169,914,671
Ensembl chr 2:169,474,933...169,913,736 		JBrowse link
G Vax2 ventral anterior homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 6:83,688,221...83,715,295
Ensembl chr 6:83,688,246...83,715,295 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:20414678 PMID:21976963 PMID:24033328 PMID:26893459 PMID:28492532 More... NCBI chr12:84,616,602...84,642,231
Ensembl chr12:84,616,536...84,642,231 		JBrowse link
G Wnt7a wingless-type MMTV integration site family, member 7A ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 6:91,340,963...91,388,335
Ensembl chr 6:91,340,963...91,388,345 		JBrowse link
G Wnt7b wingless-type MMTV integration site family, member 7B ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 NCBI chr15:85,419,638...85,466,022
Ensembl chr15:85,419,638...85,466,674 		JBrowse link
syndromic microphthalmia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BMP4-Related Syndromic Microphthalmia | ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies		 OMIM
CTD
ClinVar		 PMID:12404109 PMID:17003840 PMID:18252212 PMID:18305125 PMID:18771417 More... NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Cdkn3 cyclin dependent kinase inhibitor 3 ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chr14:46,997,912...47,008,987
Ensembl chr14:46,997,998...47,009,126 		JBrowse link
G Cgrrf1 cell growth regulator with ring finger domain 1 ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chr14:47,069,591...47,091,655
Ensembl chr14:47,069,582...47,091,650 		JBrowse link
G Cnih1 cornichon family AMPA receptor auxiliary protein 1 ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chr14:47,013,024...47,025,814
Ensembl chr14:47,013,024...47,025,868 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chr14:47,391,352...47,426,870
Ensembl chr14:47,391,352...47,426,870 		JBrowse link
G Gmfb glia maturation factor, beta ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chr14:47,045,606...47,059,711
Ensembl chr14:47,045,606...47,059,699 		JBrowse link
G LOC109433675 Bmp4 promoter region ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:25741868 NCBI chr14:46,623,541...46,630,440 JBrowse link
G Samd4 sterile alpha motif domain containing 4 ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chr14:47,120,414...47,343,274
Ensembl chr14:47,120,311...47,343,272 		JBrowse link
syndromic microphthalmia 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a3 aldehyde dehydrogenase family 1, subfamily A3 ISO ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:28590501 NCBI chr 7:66,040,640...66,077,225
Ensembl chr 7:66,040,638...66,077,265 		JBrowse link
G Nhej1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:37580330 NCBI chr 1:75,006,505...75,101,870
Ensembl chr 1:75,006,298...75,101,844 		JBrowse link
G Sema3e sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E ISO ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:14,075,290...14,306,703
Ensembl chr 5:14,075,290...14,306,703 		JBrowse link
G Stra6 stimulated by retinoic acid gene 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Matthew-Wood syndrome | ClinVar Annotator: match by term: Microphthalmia syndromic 9 | ClinVar Annotator: match by term: Pulmonary agenesis microphthalmi and diaphragmatic defect
DNA:mutations:multiple (human)		 CTD
ClinVar
OMIM
RGD		 PMID:11857549 PMID:16199547 PMID:17273977 PMID:17503335 PMID:18316031 More... RGD:155631273 NCBI chr 9:57,971,076...58,061,287
Ensembl chr 9:57,971,071...58,061,279 		JBrowse link
G Wnt7b wingless-type MMTV integration site family, member 7B ISO ClinVar Annotator: match by term: Matthew-Wood syndrome ClinVar PMID:25741868 PMID:35790350 NCBI chr15:85,419,638...85,466,022
Ensembl chr15:85,419,638...85,466,674 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16225
    sensory system disease 7137
      eye disease 3686
        microphthalmia 228
          Adams Nance Syndrome 0
          Arhinia, Choanal Atresia, and Microphthalmia 1
          Aughton Syndrome 0
          Behrens Baumann Dust Syndrome 0
          COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
          Duker Weiss Siber syndrome 0
          GARG-MISHRA PROGEROID SYNDROME 1
          GOMBO Syndrome 0
          Ghose Sachdev Kumar Syndrome 0
          HEART AND BRAIN MALFORMATION SYNDROME 1
          Hittner Hirsch Kreh Syndrome 4
          Holoprosencephaly 10 1
          Kaplowitz Bodurtha syndrome 0
          Macrosomia with Lethal Microphthalmia 0
          Microcephaly Microphthalmos Blindness 0
          Microcornea Corectopia Macular Hypoplasia 0
          Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
          Microgastria Limb Reduction Defect 0
          Microphthalmia Associated with Colobomatous Cyst 0
          Microphthalmia and Mental Deficiency 0
          Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 0
          Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies 0
          Microphthalmia, Cataracts, and Iris Abnormalities 2
          Oculodentodigital Dysplasia, Autosomal Recessive 2
          Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria 0
          Thomas Jewett Raines Syndrome 0
          cataract 40 1
          chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1
          frontonasal dysplasia 3 1
          isolated microphthalmia + 104
          nanophthalmos + 5
          optic disc anomalies with retinal and/or macular dystrophy 2
          syndromic microphthalmia + 96
Path 2
Term Annotations click to browse term
  disease 16225
    Pathological Conditions, Signs and Symptoms 12631
      Signs and Symptoms 10509
        Neurologic Manifestations 10167
          sensory system disease 7137
            eye disease 3686
              Eye Abnormalities 821
                microphthalmia 228
                  Adams Nance Syndrome 0
                  Arhinia, Choanal Atresia, and Microphthalmia 1
                  Aughton Syndrome 0
                  Behrens Baumann Dust Syndrome 0
                  COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
                  Duker Weiss Siber syndrome 0
                  GARG-MISHRA PROGEROID SYNDROME 1
                  GOMBO Syndrome 0
                  Ghose Sachdev Kumar Syndrome 0
                  HEART AND BRAIN MALFORMATION SYNDROME 1
                  Hittner Hirsch Kreh Syndrome 4
                  Holoprosencephaly 10 1
                  Kaplowitz Bodurtha syndrome 0
                  Macrosomia with Lethal Microphthalmia 0
                  Microcephaly Microphthalmos Blindness 0
                  Microcornea Corectopia Macular Hypoplasia 0
                  Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
                  Microgastria Limb Reduction Defect 0
                  Microphthalmia Associated with Colobomatous Cyst 0
                  Microphthalmia and Mental Deficiency 0
                  Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 0
                  Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies 0
                  Microphthalmia, Cataracts, and Iris Abnormalities 2
                  Oculodentodigital Dysplasia, Autosomal Recessive 2
                  Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria 0
                  Thomas Jewett Raines Syndrome 0
                  cataract 40 1
                  chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1
                  frontonasal dysplasia 3 1
                  isolated microphthalmia + 104
                  nanophthalmos + 5
                  optic disc anomalies with retinal and/or macular dystrophy 2
                  syndromic microphthalmia + 96
paths to the root